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A safe balance: the importance of adapting your PKU management

child playing/rea ding. to convey idea of mental and intellectual health.

Phenylalanine (Phe) is one of many amino acids that combine to make important proteins which the body uses to build muscle, provide energy and repair body tissue. Because people with Phenylketonuria (PKU) are missing the enzyme for normal breakdown of Phe, the excess accumulates in the blood and begins to affect the brain.

Like all children, yours has the possibility to reach his/her full potential. However, if left untreated, the effects of high blood Phe levels on the brain are devastating. In the untreated developing child, intelligence is lost at a rate of about four IQ points each month, leading to severe mental retardation. Rashes such as eczema develop and some children experience seizures.

Poor compliance to diet may also have consequences. Your child may suffer with concentration, experience problems with memory and struggle with organisational skills. Speech development may be delayed and your child may be less emotionally stable and experience nervousness, anxiety and irritability. The good news is that by maintaining low blood Phe levels within the target range set by your PKU specialist, your child will develop normally.

Update your knowledge base

In the past 12 to 18 months, you’ll have witnessed your child’s rapid passage from baby to toddler. During that time, your family’s confidence in managing Phenylketonuria (PKU) will have grown. As your child enters this next key stage of development, you may have new questions for your PKU specialist.

By now, you will be familiar with many aspects of the disorder and the terms related to its management. You’ll have a fundamental understanding of how to calculate Phenylalanine (Phe) present in food and record your child’s food intake; your dietitian or nutritionist will have helped introduce your child to solid food and in place of a special Phe-formula, your child may have graduated to a Phe-free supplement or substitute.

Now may be the right time to meet again with your PKU specialist to learn more about the way forward. You may like to download this list of questions to add to your own

Facts about PKU

Frequently asked questions about PKU and treatment options.

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Neurotoxic

A substance or agent which is damaging to the brain.

Nutritionist

See dietitian/nutritionist.

Eczema

A skin condition which causes the skin to appear red, swollen and itchy.

Enzyme

A kind of biological molecule that facilitates certain chemical reactions inside the body. People with Phenylketonuria (PKU) lack a certain enzyme called Phenylalanine Hydroxylase (PAH).

PAH (Phenylalanine Hydroxylase)

An enzyme which works together with Tetrahydrobiopterin (BH4) to convert Phenylalanine (Phe) to Tyrosine (Tyr) in the liver. A deficiency in PAH results in high Phenylalanine levels in the blood, which is the biochemical hallmark of Phenylketonuria (PKU).

Phenotype

An observable characteristic or trait of an organism. Phenotypes result from the expression of an organism’s genes as well as the influence of environmental factors.

phenylalanine (Phe) tolerance

The quantity of Phe a patient may consume without a significant increase in her or his target blood Phe levels. Usually expressed as daily intake.

Phenylalanine (Phe)

A building block of protein, and one of the 10 essential amino acids. An inability to metabolize excess phenylalanine is the characteristic feature of Phenylketonuria (PKU). When the blood concentration of Phenylalanine exceeds what is considered a healthy level, excess amounts may build up in the brain, causing mental retardation.

Phenylalanine Hydroxylase

See PAH.

Phenylketonuria

See PKU.

PKU (Phenylketonuria)

An inherited metabolic defect in protein metabolism. In PKU, the Phenylalanine Hydroxylase (PAH) enzyme is unable to convert Phenylalanine to Tyrosine, resulting in a build-up of Phenylalanine (Phe) in the blood that eventually passes into the brain, causing mental retardation and other neurological problems.

Protein

A type of molecule produced by the body from Amino acids.